Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6314147

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:794,527

Description:GRCh37/hg19 19q13.43(chr19:56332200-57126728) AND not specified

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 3802 SVs from 98 studies. See in: genome view

Remapped(Score: Perfect):55,820,834-56,615,360

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6314147	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	55,820,834	56,615,360
nsv6314147	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	56,332,200	57,126,728

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17969227	copy number gain	Multiple	Multiple	not specified	Uncertain significance	ClinVar	RCV002052691.3, VCV001526672.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17969227	Remapped	Perfect	NC_000019.10:g.(?_ 55820834)_(5661536 0_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	55,820,834	56,615,360
nssv17969227	Submitted genomic		NC_000019.9:g.(?_5 6332200)_(57126728 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	56,332,200	57,126,728

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17969227	GRCh37: NC_000019.9:g.(?_56332200)_(57126728_?)dup	copy number gain	germline	not specified	Uncertain significance	ClinVar	RCV002052691.3, VCV001526672.3

No genotype data were submitted for this variant

You are here: NCBI